{"orpha":3207,"name":"White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Curatolo-Cilio-Pessagno syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3207/","orphanet_url":"https://www.orpha.net/en/disease/detail/3207","names":{"fr":{"name":"Syndrome d'hypoplasie de la substance blanche-agénésie du corps calleux-déficience intellectuelle","synonyms":["Syndrome de Curatolo-Cilio-Pessagno"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par une hypoplasie sévère de la substance blanche, une agénésie ou une hypoplasie extrême du corps calleux, une déficience intellectuelle sévère, un retard de croissance et une légère dysmorphie médiofaciale (hypertélorisme, racine nasale large, micrognathie). Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Hypoplasie der weißen Gehirnsubstanz-Corpus-callosum-Agenesie-Intelligenzminderung-Syndrom","synonyms":["Caratolo-Cilio-Pessagno-Syndrom"]},"es":{"name":"Síndrome de hipoplasia de la sustancia blanca-agenesia del cuerpo calloso-discapacidad intelectual","synonyms":["Síndrome de Curatolo-Cilio-Pessagno"],"definition":"Es un síndrome dismórfico / por múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por grave hipoplasia de la sustancia blanca, agenesia o hipoplasia extrema del cuerpo calloso, grave discapacidad intelectual, fallo de medro y dismofia facial de la línea media menor (incluyendo hipertelorismo, raíz nasal amplia, micrognatia). No ha habido más casos descritos en la literatura desde 1993."},"it":{"name":"Sindrome ipoplasia della sostanza bianca-agenesia del corpo calloso-disabilità intellettiva","synonyms":["Sindrome Curatolo-Cilio-Pessagno"],"definition":"È una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da grave ipoplasia della sostanza bianca, agenesia o estrema ipoplasia del corpo calloso, grave disabilità intellettiva, ritardo della crescita e dismorfismi sfumati della linea mediana (ipertelorismo, radice del naso ampia, micrognazia). Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Hypoplasie van witte stof - agenesie van corpus callosum - intellectuele achterstand-syndroom","synonyms":["Syndroom van Curatolo-Cilio-Pessagno"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door ernstige hypoplasie van witte stof, agenesie of extreme hypoplasie van het corpus callosum, ernstige intellectuele beperking, groeiachterstand en minieme faciale dysmorfie langs de middellijn (waaronder hypertelorisme, brede neuswortel, micrognathie). Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hipoplasia da substância branca-agenesia do corpo caloso-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Curatolo-Cilio-Pessagno"]},"pl":{"name":"Hipoplazja istoty białej - agnezja ciała modzelowatego - niepełnosprawność intelektualna","synonyms":["Zespół Curatolo, Cilio i Pessagno"]},"cs":{"name":"Syndrom zahrnující hypoplázii bílé hmoty, agenezi corpus callosum a mentální retardaci","synonyms":["Curatolův-Ciliův-Pessagnův syndrom","Curatolo-Cilio-Pessagnův syndrom"]},"uk":{"name":"Синдром гіпоплазії білої речовини-агенезії мозолистого тіла-інтелектуальної недостатності","synonyms":["Синдром Куратоло-Чіліо-Пессаньо"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993."},"zh":{"name":"白质发育不全-胼胝体发育不全-智力障碍综合征","synonyms":["Curatolo-Cilio-Pessagno 综合征"]},"tr":{"name":"Beyaz cevher hipoplazisi-korpus kallozum agenezisi-zihinsel yetersizlik sendromu","synonyms":["Curatolo-Cilio-Pessagno sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017918","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536701","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931292","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5560","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"8327066[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8327066[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012430","label":"Cerebral white matter hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null}]}}